Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19459305G= , CM000686.2:g.19459305G= | GRCh38 |
| NC_000024.9:g.21621191G= , CM000686.1:g.21621191G= | GRCh37 |
| NC_000024.8:g.20080579G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_002923.2:n.1855C= | |
| NR_033732.1:n.2001C= | |
| ENST00000400605.5:n.1984C= | |
| ENST00000441139.5:n.1855C= | |
| ENST00000513194.1:n.4641C= | |
| ENST00000650676.1:n.1990C= |